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Autosomal dominant polycystic kidney disease.

American Family Physician 2014 September 2
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of kidney disease. Enlarging cysts within the kidneys are the clinical hallmark of the disease. Renal manifestations include varying degrees of kidney injury, urinary tract infections, kidney stones, and hematuria. Extrarenal manifestations can include pain, hypertension, left ventricular hypertrophy, hepatic cysts, intracranial aneurysm, diverticulosis, and abdominal and inguinal hernias. The progression of ADPKD cannot be reversed with current treatment modalities; therefore, therapies target the resulting clinical manifestations. Early detection and management of hypertension are important to delay the progression of renal dysfunction and development of cardiovascular complications. Pain management includes evaluation of concomitant illnesses, use of analgesics, and adjuvant therapy. Fluoroquinolones may be the most useful class of antibiotics for the treatment of urinary tract infections because of their lipophilic properties and bactericidal action against gram-negative pathogens. Nephrolithiasis is twice as common in persons with ADPKD compared with the general population and is suggested by flank pain with or without hematuria. Cystic hemorrhages usually resolve within one week, although microscopic hematuria may still be present. Because of the proliferative effect of estrogen on hepatic cysts, oral contraceptives containing estrogen and menopausal estrogen therapy should be administered at the lowest effective dose or avoided in patients with ADPKD. Intracranial aneurysms are at least twice as common in patients with ADPKD than in the general population. Renal ultrasonography is the diagnostic modality of choice to screen at-risk individuals for ADPKD.

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